HSPA9
Template:Short description Template:Cs1 config Template:Infobox gene Mitochondrial 70kDa heat shock protein (mtHsp70), also known as mortalin, is a protein that in humans is encoded by the HSPA9 gene.[1][2]
Function
The product encoded by this gene belongs to the heat shock protein 70 family which contains both heat-inducible and constitutively expressed members. The latter are called heat-shock cognate proteins. This gene encodes a heat-shock cognate protein. This protein plays a role in the control of cell proliferation. It may also act as a chaperone.[2]
Interactions
HSPA9 has been shown to interact with FGF1[3] and P53.[4]
Clinical relevance and genetic deficiency
In 2015, a group around Andrea Superti-Furga showed that biallelic variants in the HSPA9 gene may result in a combination of congenital malformations called the EVEN-PLUS syndrome.[5][6] These genetic variants have been shown to interfere with normal HSPA9 function [7]
References
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Further reading
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External links
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- PDBe-KB provides an overview of all the structure information available in the PDB for Human Stress-70 protein, mitochondrial